메뉴 건너뛰기




Volumn , Issue 63, 2002, Pages 75-90

CADASIL and genetics of cerebral ischaemia

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH3 RECEPTOR; CELL SURFACE RECEPTOR; ONCOPROTEIN;

EID: 0038282364     PISSN: 03036995     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-3-7091-6137-1_5     Document Type: Review
Times cited : (16)

References (64)
  • 2
    • 0033214675 scopus 로고    scopus 로고
    • Presenilins: Molecular switches between proteolysis and signal transduction
    • Annaert W, De Strooper B (1999) Presenilins: molecular switches between proteolysis and signal transduction. TINS 22: 439-443
    • (1999) TINS , vol.22 , pp. 439-443
    • Annaert, W.1    De Strooper, B.2
  • 3
    • 0033617522 scopus 로고    scopus 로고
    • Notch signaling: Cell fate control and signal integration in development
    • Artavanis-Tsakonas S, Rand MD, Lake RJ (1999) Notch signaling: cell fate control and signal integration in development. Science 284: 770-776
    • (1999) Science , vol.284 , pp. 770-776
    • Artavanis-Tsakonas, S.1    Rand, M.D.2    Lake, R.J.3
  • 4
    • 0032820657 scopus 로고    scopus 로고
    • The notch intracellular domain represses Notch 1-mediated activation through hairy/Enhancer of split (HES) promoters
    • Beatus P, Lundkvist J, Oberg C, Lendahl U (1999) The notch intracellular domain represses Notch 1-mediated activation through hairy/Enhancer of split (HES) promoters. Development 126: 3925-3935
    • (1999) Development , vol.126 , pp. 3925-3935
    • Beatus, P.1    Lundkvist, J.2    Oberg, C.3    Lendahl, U.4
  • 5
    • 0029834598 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): A morphological study of a German family
    • Bergmann M, Ebke M, Yuan Y, et al (1996) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family. Acta Neuropathol 92: 341-350
    • (1996) Acta Neuropathol , vol.92 , pp. 341-350
    • Bergmann, M.1    Ebke, M.2    Yuan, Y.3
  • 6
    • 0031661678 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis
    • Caronti B, Calandriello L, Francia A, et al (1998) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis. Acta Neurol Scand 98: 259-267
    • (1998) Acta Neurol Scand , vol.98 , pp. 259-267
    • Caronti, B.1    Calandriello, L.2    Francia, A.3
  • 9
    • 0031784085 scopus 로고    scopus 로고
    • Patterns of MRI lesions in CADASIL
    • Chabriat H, Levy C, Taillia H, et al (1998) Patterns of MRI lesions in CADASIL. Neurology 51: 452-457
    • (1998) Neurology , vol.51 , pp. 452-457
    • Chabriat, H.1    Levy, C.2    Taillia, H.3
  • 10
    • 0034843769 scopus 로고    scopus 로고
    • CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): An Australian perspective
    • Chuah TL, Tan SM, Flanagan S, Hyland V, Sullivan AA, Henderson R, MacMillan J, Lander C (2001) CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): an Australian perspective. J Clin Neurosci 8: 404-406
    • (2001) J Clin Neurosci , vol.8 , pp. 404-406
    • Chuah, T.L.1    Tan, S.M.2    Flanagan, S.3    Hyland, V.4    Sullivan, A.A.5    Henderson, R.6    MacMillan, J.7    Lander, C.8
  • 11
    • 0034027002 scopus 로고    scopus 로고
    • Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL
    • Coulthard A, Blank SC, Bushby KMD, et al (1999) Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br J Radiol 73: 256-265
    • (1999) Br J Radiol , vol.73 , pp. 256-265
    • Coulthard, A.1    Blank, S.C.2    Bushby, K.M.D.3
  • 12
    • 0032518695 scopus 로고    scopus 로고
    • Signal transduction by the Wnt family of ligands
    • Dale T (1998) Signal transduction by the Wnt family of ligands. Biochem J 329: 209-223
    • (1998) Biochem J , vol.329 , pp. 209-223
    • Dale, T.1
  • 13
    • 0034012385 scopus 로고    scopus 로고
    • Screening British CADASIL families for mutations in NOTCH3 gene
    • De Lange RPJ et al, Bolt J, Schanen C, et al (1999) Screening British CADASIL families for mutations in NOTCH3 gene. J Med Genet 37: 224-225
    • (1999) J Med Genet , vol.37 , pp. 224-225
    • De Lange, R.P.J.1    Bolt, J.2    Schanen, C.3
  • 14
    • 0031751315 scopus 로고    scopus 로고
    • CADASIL in a North American family: Clinical, pathologic, and radiologic findings
    • Desmond DW, Moroney JT, Lynch T, et al (1998) CADASIL in a North American family: clinical, pathologic, and radiologic findings. Neurology 51: 844-899
    • (1998) Neurology , vol.51 , pp. 844-899
    • Desmond, D.W.1    Moroney, J.T.2    Lynch, T.3
  • 15
    • 0033036190 scopus 로고    scopus 로고
    • The natural history of CADASIL. A pooled analysis of previously published cases
    • Desmond DW, Moroney JT, Lynch T, et al (1999) The natural history of CADASIL. A pooled analysis of previously published cases. Stroke 30: 1230-1233
    • (1999) Stroke , vol.30 , pp. 1230-1233
    • Desmond, D.W.1    Moroney, J.T.2    Lynch, T.3
  • 16
    • 0031738054 scopus 로고    scopus 로고
    • The phenotypic spectrum of CADASIL: Clinical findings in 102 cases
    • Dichgans M, Mayer M, Uttner I, et al (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44: 731-739
    • (1998) Ann Neurol , vol.44 , pp. 731-739
    • Dichgans, M.1    Mayer, M.2    Uttner, I.3
  • 17
    • 0013682618 scopus 로고    scopus 로고
    • Cerebrospinal fluid findings in CADASIL
    • Dichgans M, Wick M, Gasser T (1999a) Cerebrospinal fluid findings in CADASIL. Neurology 39: 110-112
    • (1999) Neurology , vol.39 , pp. 110-112
    • Dichgans, M.1    Wick, M.2    Gasser, T.3
  • 18
    • 0033594430 scopus 로고    scopus 로고
    • Quantitative MRI in CADASIL: Correlation with disability and cognitive performance
    • Dichgans M, Filippi M, Bruning R, et al (1999b) Quantitative MRI in CADASIL: correlation with disability and cognitive performance. Neurology 52: 1361-1367
    • (1999) Neurology , vol.52 , pp. 1361-1367
    • Dichgans, M.1    Filippi, M.2    Bruning, R.3
  • 19
    • 0034034483 scopus 로고    scopus 로고
    • Small inframe deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch 3 EGF-like repeat domains
    • Dichgans M, Ludwig H, Muller-Hocker J, Messerschmidt A, Gasser T (2000) Small inframe deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch 3 EGF-like repeat domains. Eur J Hum Genet 4: 280-285
    • (2000) Eur J Hum Genet , vol.4 , pp. 280-285
    • Dichgans, M.1    Ludwig, H.2    Muller-Hocker, J.3    Messerschmidt, A.4    Gasser, T.5
  • 23
    • 0024465713 scopus 로고
    • Hereditary retinal vasculopathy with cerebral white matter lesions
    • Gutmann DH, Fischbeck KH, Sergott RC (1989) Hereditary retinal vasculopathy with cerebral white matter lesions. Am J Med Genet 34: 217-220
    • (1989) Am J Med Genet , vol.34 , pp. 217-220
    • Gutmann, D.H.1    Fischbeck, K.H.2    Sergott, R.C.3
  • 24
    • 0033843087 scopus 로고    scopus 로고
    • Genetics and ischaemic stroke
    • Hassan A, Markus H (2000) Genetics and ischaemic stroke. Brain 9: 1784-1812
    • (2000) Brain , vol.9 , pp. 1784-1812
    • Hassan, A.1    Markus, H.2
  • 25
    • 0031059371 scopus 로고    scopus 로고
    • CADASIL: Study of two American families with predominant dementia
    • Hedera P, Friedland RP (1997) CADASIL: study of two American families with predominant dementia. J Neurol Sci 146: 27-33
    • (1997) J Neurol Sci , vol.146 , pp. 27-33
    • Hedera, P.1    Friedland, R.P.2
  • 26
    • 0033071406 scopus 로고    scopus 로고
    • Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26
    • Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T (1999) Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 64: 533-537
    • (1999) Am J Hum Genet , vol.64 , pp. 533-537
    • Ikeda, H.1    Sasaki, T.2    Yoshimoto, T.3    Fukui, M.4    Arinami, T.5
  • 34
    • 0030452414 scopus 로고    scopus 로고
    • Cerebral vessels in ageing and Alzheimer's disease
    • Kalaria RN (1996) Cerebral vessels in ageing and Alzheimer's disease. Pharm Ther 72: 193-214
    • (1996) Pharm Ther , vol.72 , pp. 193-214
    • Kalaria, R.N.1
  • 35
    • 0035385932 scopus 로고    scopus 로고
    • Advances in molecular genetics and pathology of cerebrovascular disorders
    • Kalaria RN (2001) Advances in molecular genetics and pathology of cerebrovascular disorders. Trends Neurosci 24: 392-400
    • (2001) Trends Neurosci , vol.24 , pp. 392-400
    • Kalaria, R.N.1
  • 37
    • 0001018886 scopus 로고    scopus 로고
    • Vascular diseases
    • Graham DI, Lantos PL (eds) Arnold, London
    • Kalimo H, Haltia M (1997) Vascular diseases. In: Graham DI, Lantos PL (eds) Greenfield's neuropathology, 6th edn. Arnold, London, pp 315-396
    • (1997) Greenfield's Neuropathology, 6th Edn. , pp. 315-396
    • Kalimo, H.1    Haltia, M.2
  • 39
    • 0033429146 scopus 로고    scopus 로고
    • Identification of a Notch 3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Kamimura K, Takahashi K, Uyama E, Tokunaga M, Kotorii S, Uchino M, Tabira T (1999) Identification of a Notch 3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Alzheimer Dis Assoc Disord 13: 222-225
    • (1999) Alzheimer Dis Assoc Disord , vol.13 , pp. 222-225
    • Kamimura, K.1    Takahashi, K.2    Uyama, E.3    Tokunaga, M.4    Kotorii, S.5    Uchino, M.6    Tabira, T.7
  • 40
    • 0031451172 scopus 로고    scopus 로고
    • The lin-12/notch signaling pathway and its regulation
    • Kimble J, Simpson P (1997) The lin-12/notch signaling pathway and its regulation. Ann Rev Cell Dev Biol 13: 333-361
    • (1997) Ann Rev Cell Dev Biol , vol.13 , pp. 333-361
    • Kimble, J.1    Simpson, P.2
  • 42
    • 0029065542 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-confirmation by cerebral biopsy in 2 cases
    • Lammie GA, Rakshi J, Rossor MN, et al (1995) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-confirmation by cerebral biopsy in 2 cases. Clin Neuropathol 14: 201-206
    • (1995) Clin Neuropathol , vol.14 , pp. 201-206
    • Lammie, G.A.1    Rakshi, J.2    Rossor, M.N.3
  • 44
    • 0030949576 scopus 로고    scopus 로고
    • Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy
    • Malandrini A, Carrera P, Ciacci G, et al (1997) Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy. Neurology 48: 1200-1203
    • (1997) Neurology , vol.48 , pp. 1200-1203
    • Malandrini, A.1    Carrera, P.2    Ciacci, G.3
  • 45
    • 0345367425 scopus 로고    scopus 로고
    • SPECT study of a German CADASIL family: A phenotype with migraine and progressive dementia only
    • Mellies JK, Baumer T, Muller JA, et al (1998) SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. Neurology 50: 1715-1721
    • (1998) Neurology , vol.50 , pp. 1715-1721
    • Mellies, J.K.1    Baumer, T.2    Muller, J.A.3
  • 46
    • 0032976228 scopus 로고    scopus 로고
    • Diagnostic Notch 3 sequence analysis in CADASIL: Three new mutations in Dutch patients
    • Oberstein SA, Ferrari MD, Bakker E, et al (1999) Diagnostic Notch 3 sequence analysis in CADASIL: three new mutations in Dutch patients. Neurology 52: 1913-1915
    • (1999) Neurology , vol.52 , pp. 1913-1915
    • Oberstein, S.A.1    Ferrari, M.D.2    Bakker, E.3
  • 48
    • 0033014046 scopus 로고    scopus 로고
    • Evidence for a physical interaction between presenilin and Notch
    • Ray WJ, Yao M, Nowotny P, et al (1999) Evidence for a physical interaction between presenilin and Notch. Proc Natl Acad Sci USA 96: 3263-3268
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 3263-3268
    • Ray, W.J.1    Yao, M.2    Nowotny, P.3
  • 50
    • 0032439944 scopus 로고    scopus 로고
    • CADASIL syndrome: A genetic form of vascular dementia
    • Salloway S, Hong J, et al (1998) CADASIL syndrome: a genetic form of vascular dementia. J Geriatr Psychiatry Neurol 11: 71-77
    • (1998) J Geriatr Psychiatry Neurol , vol.11 , pp. 71-77
    • Salloway, S.1    Hong, J.2
  • 52
    • 0017750160 scopus 로고
    • Hereditary multi-infarct dementia
    • Sourander P, Walinder J (1977) Hereditary multi-infarct dementia. Acta Neuropathol 39: 247-254
    • (1977) Acta Neuropathol , vol.39 , pp. 247-254
    • Sourander, P.1    Walinder, J.2
  • 53
    • 0017782948 scopus 로고
    • Chronic familial vascular encephalopathy
    • Stevens DL, Hewlett RH, Brownell B (1977) Chronic familial vascular encephalopathy. Lancet i: 1364-1365
    • (1977) Lancet , vol.1 , pp. 1364-1365
    • Stevens, D.L.1    Hewlett, R.H.2    Brownell, B.3
  • 55
    • 0033551498 scopus 로고    scopus 로고
    • CACNA1A mutations: Hemiplegic migraine, episodic ataxia type 2, and the others
    • Tournier-Lasserve E (1999) CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others. Neurology 53: 3-4
    • (1999) Neurology , vol.53 , pp. 3-4
    • Tournier-Lasserve, E.1
  • 56
    • 0031953867 scopus 로고    scopus 로고
    • A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up
    • Trojano L, Ragno M, Manca A, et al (1998) A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up. J Neurol 245: 217-222
    • (1998) J Neurol , vol.245 , pp. 217-222
    • Trojano, L.1    Ragno, M.2    Manca, A.3
  • 59
    • 0033785342 scopus 로고    scopus 로고
    • Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients
    • Wang T, Sharma SD, Fox N, Rossor M, Brown MJ, Sharma P (2000) Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients. J Neurol Neurosurg Psychiatry 69: 652-654
    • (2000) J Neurol Neurosurg Psychiatry , vol.69 , pp. 652-654
    • Wang, T.1    Sharma, S.D.2    Fox, N.3    Rossor, M.4    Brown, M.J.5    Sharma, P.6
  • 60
    • 0033546629 scopus 로고    scopus 로고
    • Cerebroretinal vasculopathy mimicking a brain tumor: A case of a rare hereditary syndrome
    • Weil S, Reifenberger G, Dudel C, Yousry TA, Schriever S, Noachtar S (1999) Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. Neurology 53: 629-631
    • (1999) Neurology , vol.53 , pp. 629-631
    • Weil, S.1    Reifenberger, G.2    Dudel, C.3    Yousry, T.A.4    Schriever, S.5    Noachtar, S.6
  • 61
    • 0030748716 scopus 로고    scopus 로고
    • The ins and outs of Notch signaling
    • Weinmaster G (1997) The ins and outs of Notch signaling. Mol Cell Neurosci 9: 91-108
    • (1997) Mol Cell Neurosci , vol.9 , pp. 91-108
    • Weinmaster, G.1
  • 63
    • 0033499725 scopus 로고    scopus 로고
    • Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurolgic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    • Yousry TA, Seelos K, Mayer M, et al (1999) Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurolgic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). AJNR Am J Neuroradiol 20: 91-100
    • (1999) AJNR Am J Neuroradiol , vol.20 , pp. 91-100
    • Yousry, T.A.1    Seelos, K.2    Mayer, M.3
  • 64
    • 0027976226 scopus 로고
    • The microvascular changes in cases of hereditary multi-infarct disease of the brain
    • Zhang H, Sourander P, Olsson Y (1994) The microvascular changes in cases of hereditary multi-infarct disease of the brain. Acta Neuropathol 87: 317-324
    • (1994) Acta Neuropathol , vol.87 , pp. 317-324
    • Zhang, H.1    Sourander, P.2    Olsson, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.